THIOT
MCID: THR113
MIFTS: 18

Thiourea Tasting (THIOT)

Categories: Genetic diseases

Aliases & Classifications for Thiourea Tasting

MalaCards integrated aliases for Thiourea Tasting:

Name: Thiourea Tasting 58 30
Phenylthiocarbamide Tasting 58 6
Thiot 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
possibly two loci involved


HPO:

33
thiourea tasting:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 171200
MedGen 43 C1868397
SNOMED-CT via HPO 70 263681008 362969004

Summaries for Thiourea Tasting

OMIM : 58 The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; 604791), which contains at least 25 functional genes (Kim et al., 2005). Humans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. Kim and Drayna (2004) provided an historical review of the subject. Propylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste (Bartoshuk et al., 1994; Drewnowski and Rock, 1995). (171200)

MalaCards based summary : Thiourea Tasting, also known as phenylthiocarbamide tasting, is related to motion sickness and schizophrenia. An important gene associated with Thiourea Tasting is TAS2R38 (Taste 2 Receptor Member 38). Affiliated tissues include tongue, and related phenotype is abnormality of the endocrine system.

Related Diseases for Thiourea Tasting

Diseases related to Thiourea Tasting via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 motion sickness 10.3
2 schizophrenia 10.1
3 peptic ulcer disease 10.1
4 depression 10.1

Symptoms & Phenotypes for Thiourea Tasting

Human phenotypes related to Thiourea Tasting:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the endocrine system 33 HP:0000818

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
relationship between ptc nontasting to cretinism

Misc:
variation in ability to taste ptc

Clinical features from OMIM:

171200

Drugs & Therapeutics for Thiourea Tasting

Search Clinical Trials , NIH Clinical Center for Thiourea Tasting

Genetic Tests for Thiourea Tasting

Genetic tests related to Thiourea Tasting:

# Genetic test Affiliating Genes
1 Thiourea Tasting 30

Anatomical Context for Thiourea Tasting

MalaCards organs/tissues related to Thiourea Tasting:

42
Tongue

Publications for Thiourea Tasting

Articles related to Thiourea Tasting:

# Title Authors Year
1
Associations of phenylthiocarbamide tasting to alcohol problems and family history of alcoholism differ by gender. ( 16712955 )
2006
2
Phenylthiocarbamide tasting and family history of depression, revisited: low rates of depression in families of supertasters. ( 15081630 )
2004
3
Phenylthiocarbamide tasting in a sample of twins. ( 1169903 )
1975
4
Relation between some forms of glaucoma and phenylthiocarbamide tasting. ( 4725858 )
1973
5
Phenylthiocarbamide tasting ability among Lapps and Finns. ( 5514301 )
1970
6
Phenylthiocarbamide tasting ability and malignant tumours. ( 5366287 )
1969
7
Evidence against the reported linkage of phosphoglucomutase (PGM) and phenylthiocarbamide-tasting (PTC). ( 5756058 )
1968
8
PHENYLTHIOCARBAMIDE-TASTING IN THE MENTALLY IMMATURE. ( 14288581 )
1965
9
Distribution of phenylthiocarbamide tasting phenotypes in students with different ancestry in Santiago, Chile. ( 5825761 )
1964

Variations for Thiourea Tasting

ClinVar genetic disease variations for Thiourea Tasting:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAS2R38 NM_176817.4(TAS2R38): c.785T> C (p.Val262Ala) single nucleotide variant drug response rs1726866 GRCh37 Chromosome 7, 141672705: 141672705
2 TAS2R38 NM_176817.4(TAS2R38): c.785T> C (p.Val262Ala) single nucleotide variant drug response rs1726866 GRCh38 Chromosome 7, 141972905: 141972905
3 TAS2R38 NM_176817.4(TAS2R38): c.145G> C (p.Ala49Pro) single nucleotide variant drug response rs713598 GRCh37 Chromosome 7, 141673345: 141673345
4 TAS2R38 NM_176817.4(TAS2R38): c.145G> C (p.Ala49Pro) single nucleotide variant drug response rs713598 GRCh38 Chromosome 7, 141973545: 141973545
5 TAS2R38 NM_176817.4(TAS2R38): c.886A> G (p.Ile296Val) single nucleotide variant drug response rs10246939 GRCh37 Chromosome 7, 141672604: 141672604
6 TAS2R38 NM_176817.4(TAS2R38): c.886A> G (p.Ile296Val) single nucleotide variant drug response rs10246939 GRCh38 Chromosome 7, 141972804: 141972804

Expression for Thiourea Tasting

Search GEO for disease gene expression data for Thiourea Tasting.

Pathways for Thiourea Tasting

GO Terms for Thiourea Tasting

Sources for Thiourea Tasting

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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